Lista de obras -

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

artículo científico publicado en 2018

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

artículo científico publicado en 2016

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

artículo científico publicado en 2013

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

artículo científico publicado en 2017

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

artículo científico publicado en 2017

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

artículo científico publicado en 2016

Anaesthesia and neuromuscular disorders: what a neurologist needs to know

artículo científico publicado en 2020

Both pain and fatigue are important possible determinants of disability in patients with the Ehlers-Danlos syndrome hypermobility type

artículo científico publicado en 2010

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

artículo científico publicado en 2016

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

artículo científico publicado en 2021

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

scientific article published on 01 October 2018

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

artículo científico publicado en 2013

Computer-aided visualization of muscle weakness distribution

artículo científico publicado en 2008

Congenital myopathies: not only a paediatric topic.

artículo científico publicado en 2016

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

artículo científico publicado en 2013

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

artículo científico publicado en 2017

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

artículo científico publicado en 2015

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

artículo científico publicado en 2017

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

artículo científico publicado en 2015

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

artículo científico publicado en 2016

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

artículo científico publicado en 2018

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

artículo científico publicado en 2018

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

artículo científico publicado en 2016

Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome

artículo científico publicado en 2009

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

artículo científico publicado en 2018

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

artículo científico publicado en 2014

Hydrocephalus induced chorea

artículo científico publicado en 2009

Increased CK activity in serum without symptoms: further investigations often unnecessary

artículo científico publicado en 2013

Interaction between the human hippocampus and the caudate nucleus during route recognition

artículo científico publicado en 2004

KBTBD13 is an actin-binding protein that modulates muscle kinetics

scientific article published on 01 February 2020

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers

artículo científico publicado en 2015

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

artículo científico publicado en 2018

MRI in sarcoglycanopathies: a large international cohort study.

artículo científico publicado en 2017

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

artículo científico publicado en 2015

Muscle fiber dysfunction contributes to weakness in inclusion body myositis

artículo científico publicado en 2019

Mutation-specific effects on thin filament length in thin filament myopathy

artículo científico publicado en 2016

Neurological and spinal manifestations of the Ehlers-Danlos syndromes

artículo científico publicado en 2017

Neurological manifestations of Ehlers-Danlos syndrome(s): A review

artículo científico publicado en 2014

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

artículo científico publicado en 2009

Neuromuscular properties of the thigh muscles in patients with Ehlers-Danlos syndrome.

artículo científico publicado en 2012

Overactive muscles: it can be more serious than common myalgia or cramp

artículo científico publicado en 2016

Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment

artículo científico publicado en 2010

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

artículo científico publicado en 2019

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

scientific article published on 21 January 2020

Prior medical conditions and the risk of amyotrophic lateral sclerosis

artículo científico publicado en 2014

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers

artículo científico publicado en 2018

Re: Cervical myelopathy caused by retrograde intraneural dissection of anesthetic solution

artículo científico publicado en 2008

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

artículo científico publicado en 2013

Rituximab treatment in patients with refractory inflammatory myopathies

artículo científico publicado en 2011

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

artículo científico publicado en 2013

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

artículo científico publicado en 2019

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

scientific article published on 31 August 2019

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

artículo científico publicado en 2012

Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome

artículo científico

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

artículo científico publicado en 2015

The 2017 international classification of the Ehlers-Danlos syndromes

artículo científico publicado en 2017

The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments

artículo científico publicado en 2016

The Ehlers-Danlos syndromes, rare types

artículo científico publicado en 2017

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

artículo científico publicado en 2017

Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome

scientific article published on 05 January 2012

Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations

artículo científico

What's in a name? The clinical features of facioscapulohumeral muscular dystrophy

artículo científico publicado en 2016

Lista de obras de

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Anaesthesia and neuromuscular disorders: what a neurologist needs to know

Both pain and fatigue are important possible determinants of disability in patients with the Ehlers-Danlos syndrome hypermobility type

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Computer-aided visualization of muscle weakness distribution

Congenital myopathies: not only a paediatric topic.

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

Hydrocephalus induced chorea

Increased CK activity in serum without symptoms: further investigations often unnecessary

Interaction between the human hippocampus and the caudate nucleus during route recognition

KBTBD13 is an actin-binding protein that modulates muscle kinetics

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

MRI in sarcoglycanopathies: a large international cohort study.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

Muscle fiber dysfunction contributes to weakness in inclusion body myositis

Mutation-specific effects on thin filament length in thin filament myopathy

Neurological and spinal manifestations of the Ehlers-Danlos syndromes

Neurological manifestations of Ehlers-Danlos syndrome(s): A review

Neuromuscular involvement in various types of Ehlers-Danlos syndrome

Neuromuscular properties of the thigh muscles in patients with Ehlers-Danlos syndrome.

Overactive muscles: it can be more serious than common myalgia or cramp

Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

Prior medical conditions and the risk of amyotrophic lateral sclerosis

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers

Re: Cervical myelopathy caused by retrograde intraneural dissection of anesthetic solution

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

Rituximab treatment in patients with refractory inflammatory myopathies

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

The 2017 international classification of the Ehlers-Danlos syndromes

The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments

The Ehlers-Danlos syndromes, rare types

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome

Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations

What's in a name? The clinical features of facioscapulohumeral muscular dystrophy